Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1124_G1126delFs
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FBN1

NM_000138.5:p.C1124_G1126delFs

Associated Papers

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Mannucci L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."